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1145384007: Congenital hypoplasia of limb (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
4545734016 Congenital hypoplasia of extremity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4545736019 Congenital hypoplasia of limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5443783018 Congenital hypoplasia of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

121 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypoplasia of limb (disorder) Finding site Limb structure true Inferred relationship Some 1
Congenital hypoplasia of limb (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital hypoplasia of limb (disorder) Is a Congenital anomaly of limb true Inferred relationship Some
Congenital hypoplasia of limb (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital hypoplasia of limb (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypoplasia of bone of extremity (disorder) Is a True Congenital hypoplasia of limb (disorder) Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a True Congenital hypoplasia of limb (disorder) Inferred relationship Some
Hypoplasia of upper limb Is a True Congenital hypoplasia of limb (disorder) Inferred relationship Some
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. Is a True Congenital hypoplasia of limb (disorder) Inferred relationship Some
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Is a False Congenital hypoplasia of limb (disorder) Inferred relationship Some
Hypoplasia of lower limb Is a True Congenital hypoplasia of limb (disorder) Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Is a False Congenital hypoplasia of limb (disorder) Inferred relationship Some
Congenital hypoplasia of muscle of limb (disorder) Is a True Congenital hypoplasia of limb (disorder) Inferred relationship Some
Congenital hypoplasia of nail unit (disorder) Is a True Congenital hypoplasia of limb (disorder) Inferred relationship Some

This concept is not in any reference sets

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