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721837000: Hypertrichosis and acromegaloid facial appearance syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3326201015 Hypertrichosis acromegaloid facial features syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326202010 Hypertrichosis coarse face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326205012 Hypertrichosis and acromegaloid facial appearance syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326206013 Hypertrichosis and acromegaloid facial appearance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326203017 A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326204011 A very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalised increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3886651000052115 syndrom med hypertrikos och ansiktsutseende av akromegaloid typ sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Is a Congenital hypertrichosis true Inferred relationship Some
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Finding site Skin structure false Inferred relationship Some
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 4
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some 3
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Finding site Face structure false Inferred relationship Some 4
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Associated morphology Growth alteration false Inferred relationship Some 3
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Associated morphology Growth alteration true Inferred relationship Some 1
Hypertrichosis and acromegaloid facial appearance syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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