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771182002: syndroom van deformiteit van digitus I, alopecia en pigmentatie-anomalie (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3704790014 Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704791013 Thumb deformity, alopecia, pigmentation anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4213655014 Sparse hair, short stature, skin anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6925131000146116 syndroom van deformiteit van duim, alopecia en pigmentatie-anomalie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12021581000146115 syndroom van deformiteit van digitus I, alopecia en pigmentatie-anomalie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12208571000146114 syndroom van deformiteit van digitus I, alopecia en pigmentatie-anomalie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3704792018 A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Is a Genetic disorder of skin pigmentation (disorder) false Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Is a Congenital alopecia true Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Is a Hypoplasia of thumb true Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Is a Inherited cutaneous hyperpigmentation true Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Finding site Thumb structure true Inferred relationship Some 3
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Associated morphology Hyperpigmentation true Inferred relationship Some 2
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1
Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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US English

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