FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1145506008: Congenital hypoplasia of phalanx of hand (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
4546082011 Congenital hypoplasia of phalanx of hand (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444486016 Congenital hypoplasia of phalanx of hand en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


17 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypoplasia of phalanx of hand (disorder) Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
Congenital hypoplasia of phalanx of hand (disorder) Finding site Bone structure of phalanx of hand true Inferred relationship Some 1
Congenital hypoplasia of phalanx of hand (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital hypoplasia of phalanx of hand (disorder) Is a Congenital hypoplasia of bone of hand (disorder) true Inferred relationship Some
Congenital hypoplasia of phalanx of hand (disorder) Is a Congenital anomaly of digit (disorder) true Inferred relationship Some
Congenital hypoplasia of phalanx of hand (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital hypoplasia of phalanx of hand (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypoplasia of phalanx of index finger (disorder) Is a True Congenital hypoplasia of phalanx of hand (disorder) Inferred relationship Some
Congenital hypoplasia of middle phalanx of finger (disorder) Is a True Congenital hypoplasia of 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 Congenital hypoplasia of phalanx of hand (disorder) Inferred relationship Some
Congenital hypoplasia of phalanx of ring finger (disorder) Is a True Congenital hypoplasia of phalanx of hand (disorder) Inferred relationship Some
Congenital hypoplasia of phalanx of middle finger (disorder) Is a True Congenital hypoplasia of phalanx of hand (disorder) Inferred relationship Some
Congenital hypoplasia of phalanx of little finger (disorder) Is a True Congenital hypoplasia of phalanx of hand (disorder) Inferred relationship Some
Congenital hypoplasia of phalanx of thumb (disorder) Is a True Congenital hypoplasia of phalanx of hand (disorder) Inferred relationship Some
Congenital hypoplasia of proximal phalanx of hand (disorder) Is a True Congenital hypoplasia of phalanx of hand (disorder) Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start