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1297033003: Abnormally fused structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5289332010 Abnormally fused structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296153011 Abnormally fused structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296154017 Fusion that has occurred in a structure that is not normally fused. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5289332010 Abnormally fused structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296153011 Abnormally fused structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5296154017 Fusion that has occurred in a structure that is not normally fused. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormally fused structure (morphologic abnormality) Is a Fusion true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Radioulnar synostosis and dislocation of radial head Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Radioulnar synostosis and dislocation of radial head Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Osseous syndactyly lesser toes Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetal epignathus with conjoined twins (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Jackson-Weiss syndrome (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 7
Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 8
Simple syndactyly of toes of second web space of bilateral feet Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Simple syndactyly of toes of second web space of bilateral feet Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalosyndactyly Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Synostosis of bilateral humerus and ulna (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Synostosis of bilateral humerus and ulna (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral humero-radio-ulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral humero-radio-ulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral humero-radio-ulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral humero-radio-ulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Bilateral humero-radio-ulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Bilateral humero-radio-ulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
Pfeiffer syndrome type 1 (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pfeiffer syndrome type 2 Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Pfeiffer syndrome type 3 (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of fingers of bilateral hands (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of fingers of bilateral hands (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Sternopagus Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Simple syndactyly of toes of first web space of bilateral feet Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Simple syndactyly of toes of first web space of bilateral feet Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral congenital tibiofibular synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital tibiofibular synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracoomphalopagus Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracoomphalopagus Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital abnormal fusion of carpal bone Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital abnormal fusion of left carpal bones (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormal fusion of right carpal bones (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital abnormal fusion of carpal bones Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital abnormal fusion of carpal bones Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptobrachydactyly (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital radioulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital radioulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Short rib polydactyly syndrome type 5 Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of fingers of right hand Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of fingers of left hand Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of toes of right foot (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly of toes of left foot (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital radioulnar synostosis of left forearm (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital radioulnar synostosis of left forearm (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital radioulnar synostosis of right forearm (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital radioulnar synostosis of right forearm (disorder) Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital bilateral radioulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital bilateral radioulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital bilateral radioulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital bilateral radioulnar synostosis Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Associated morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Defibulation of labia minora during second stage of labor to facilitate vaginal delivery of fetus (procedure) Direct morphology True Abnormally fused structure (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1

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