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897328006: Abnormally short little finger (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4033494012 Abnormally short little finger (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4033495013 Abnormally short little finger en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4033712013 Shortened little finger en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormally short little finger (disorder) Finding site Little finger structure true Inferred relationship Some 1
Abnormally short little finger (disorder) Associated morphology Abnormal shortening true Inferred relationship Some 1
Abnormally short little finger (disorder) Is a Congenital deformity of hand (disorder) true Inferred relationship Some
Abnormally short little finger (disorder) Is a Congenital anomaly of finger (disorder) true Inferred relationship Some
Abnormally short little finger (disorder) Is a Abnormally short digit true Inferred relationship Some
Abnormally short little finger (disorder) Occurrence Congenital true Inferred relationship Some 1
Abnormally short little finger (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Is a True Abnormally short little finger (disorder) Inferred relationship Some
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Is a True Abnormally short little finger (disorder) Inferred relationship Some
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a True Abnormally short little finger (disorder) Inferred relationship Some
Abnormally short distal phalanx of little finger (disorder) Is a True Abnormally short little finger (disorder) Inferred relationship Some
Abnormally short proximal phalanx of little finger Is a True Abnormally short little finger (disorder) Inferred relationship Some

This concept is not in any reference sets

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