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Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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HP:0040196 mild microcephaly should really be a subclass of HP:0000252 microcephaly, but it appears separately #9023

Open sansburyf opened 1 year ago

sansburyf commented 1 year ago

HPO term

HP:0040196 mild microcephaly should really be a subclass of HP:0000252 microcephaly, but it appears separately

Suggested revision and reasons Could you make it a subclass please? There is also scope for moderate, severe etc. This should ideally be a parallel subclass to primary and secondary so that it is possible to specify the size and whether it is primary or secondary in parallel. Could we also have a relative microcephaly to match relative macrocephaly? - not absolute microcephaly but ≥2 SD below other parameters for body stature / height?

pnrobinson commented 4 months ago

@sansburyf sorry for the long delay. Looking at this term retrospectively, it does not seem useful because there are no generally accepted ranges for mild, moderate, and severe microcephaly. I think it is better if we retire the term "Mild microcephaly". If it is necessary to record this, then the HPO Severity terms can be used: https://hpo.jax.org/browse/term/HP:0012824

sansburyf commented 4 months ago

Thank you. I am quite happy with that.

Diolch / Thanks, Francis.

Dr Francis H Sansbury MB BChir MA MSc PhD DRCOG MRCPCH MRCP(UK) FRCP. Ymgynghorydd Genetegydd Clinigol / Consultant Clinical Geneticist, Gwasanaeth Genomeg Feddygol Cymru Gyfan, GIG Cymru Bwrdd lechyd Prifysgol Caerdydd a’r Fro / All Wales Medical Genomics Service (AWMGS), NHS Wales Cardiff and Vale University Health Board. Canolfan Iechyd Genomig Cymru / Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, Cardiff CF14 7YU, UK. Ffon / tel (+44) 029218 34000 (dderbynfa / reception). WHTN 1872 + estyniad / extension. E-bost / e-mail dderbynfa / reception @., direct @. / @. Nid wyf yn gwneud unrhyw ofal clinigol uniongyrchol ar hyn o bryd / I am not doing any direct clinical care at the moment. Ar gyfer ymholiadau ar alwad ffoniwch y dderbynfa / for clinical or on call queries contact reception. Rwy'n gweithio o ddydd Mawrth i ddydd Iau / I am working Tuesday to Thursday. Prif-arbenigwr Ymchwil Iechyd a Gofal Cymru dros Geneteg / HCRW (Health and Care Research Wales) Specialty Lead for Genetics. E-bost / e-mail @. / @. Cymrawd Ymchwil Anrhydeddus Uwch, Prifysgol Caerdydd / Honorary Senior Research Fellow, Cardiff University. E-bost / e-mail @. GMC no. / Rhif GMC 6128672.

-----Original Message----- From: Peter Robinson @.> Sent: 14 July 2024 06:27 To: obophenotype/human-phenotype-ontology @.> Cc: SANSBURY, Francis (POWYS TEACHING LHB) @.>; Mention @.> Subject: Re: [obophenotype/human-phenotype-ontology] HP:0040196 mild microcephaly should really be a subclass of HP:0000252 microcephaly, but it appears separately (Issue #9023)

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This message originated from outside of NHSmail. Please do not click links or open attachments unless you recognise the sender and know the content is safe. https://github.com/sansburyf sorry for the long delay. Looking at this term retrospectively, it does not seem useful because there are no generally accepted ranges for mild, moderate, and severe microcephaly. I think it is better if we retire the term "Mild microcephaly". If it is necessary to record this, then the HPO Severity terms can be used: https://hpo.jax.org/browse/term/HP:0012824 — Reply to this email directly, https://github.com/obophenotype/human-phenotype-ontology/issues/9023#issuecomment-2227200810, or https://github.com/notifications/unsubscribe-auth/ADLB5Y6V5GUKZ7MIQBV7RPTZMID2RAVCNFSM6AAAAABK24BB76VHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMZDEMRXGIYDAOBRGA. You are receiving this because you were mentioned.Message ID: @.***>

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