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1145503000: Hypoplasia of distal phalanx of hand (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4546076013 Hypoplasia of distal phalanx of hand (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4546077016 Hypoplasia of distal phalanx of hand en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia of distal phalanx of hand (disorder) Is a Disorder of digit true Inferred relationship Some
Hypoplasia of distal phalanx of hand (disorder) Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
Hypoplasia of distal phalanx of hand (disorder) Finding site Bone structure of distal phalanx of hand true Inferred relationship Some 1
Hypoplasia of distal phalanx of hand (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Hypoplasia of distal phalanx of hand (disorder) Is a Disorder of hand (disorder) false Inferred relationship Some
Hypoplasia of distal phalanx of hand (disorder) Is a Finding of bone in hand true Inferred relationship Some
Hypoplasia of distal phalanx of hand (disorder) Is a Disorder of bone (disorder) true Inferred relationship Some
Hypoplasia of distal phalanx of hand (disorder) Is a Disorder of hand (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypoplasia of distal phalanx of index finger (disorder) Is a True Hypoplasia of distal phalanx of hand (disorder) Inferred relationship Some
Hypoplasia of distal phalanx of ring finger (disorder) Is a True Hypoplasia of distal phalanx of hand (disorder) Inferred relationship Some
Hypoplasia of distal phalanx of middle finger Is a True Hypoplasia of distal phalanx of hand (disorder) Inferred relationship Some
Hypoplasia of distal phalanx of thumb Is a True Hypoplasia of distal phalanx of hand (disorder) Inferred relationship Some
Hypoplasia of distal phalanx of little finger Is a True Hypoplasia of distal phalanx of hand (disorder) Inferred relationship Some
A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck. Is a True Hypoplasia of distal phalanx of hand (disorder) Inferred relationship Some

This concept is not in any reference sets

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