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771182002: Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)


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
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
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
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
3382071001000113 Daumenfehlbildung-Alopezie-Pigmentanomalie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1009021000172112 syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1009021000172112 syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382071001000113 Daumenfehlbildung-Alopezie-Pigmentanomalie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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