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


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

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 SNOMED CT core module
3704791013 Thumb deformity, alopecia, pigmentation anomaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4213655014 Sparse hair, short stature, skin anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core 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 false Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a Congenital alopecia true Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a Hypoplasia of thumb true Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a Inherited cutaneous hyperpigmentation true Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Thumb deformity, alopecia, pigmentation anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Thumb deformity, alopecia, pigmentation anomaly syndrome Finding site Hair structure true Inferred relationship Existential restriction modifier 1
Thumb deformity, alopecia, pigmentation anomaly syndrome Associated morphology Congenital absence false Inferred relationship Existential restriction modifier 1
Thumb deformity, alopecia, pigmentation anomaly syndrome Finding site Skin structure true Inferred relationship Existential restriction modifier 2
Thumb deformity, alopecia, pigmentation anomaly syndrome Finding site Thumb structure true Inferred relationship Existential restriction modifier 3
Thumb deformity, alopecia, pigmentation anomaly syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 3
Thumb deformity, alopecia, pigmentation anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Thumb deformity, alopecia, pigmentation anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Thumb deformity, alopecia, pigmentation anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Thumb deformity, alopecia, pigmentation anomaly syndrome Associated morphology Hyperpigmentation true Inferred relationship Existential restriction modifier 2
Thumb deformity, alopecia, pigmentation anomaly syndrome Associated morphology Absence true Inferred relationship Existential restriction modifier 1
Thumb deformity, alopecia, pigmentation anomaly syndrome Interprets Height / growth measure true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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