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24216005: Congenital absence (morphologic abnormality)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
40644015 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence (morphologic abnormality) Is a Aplasia true Inferred relationship Some
Congenital absence (morphologic abnormality) Is a Congenital anomaly false Inferred relationship Some
Congenital absence (morphologic abnormality) Is a Congenital malformation false Inferred relationship Some
Congenital absence (morphologic abnormality) Is a Absence (morphologic abnormality) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Transverse deficiency lower limb - metatarsal level Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Transverse deficiency lower limb - hip level Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Complete ablepharon Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Duane-radial ray syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Ectrodactyly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Hemimelia of lower limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemimelia of lower limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Transverse deficiency lower limb - through femur Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemimelia of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Transverse deficiency lower limb - through tibia/fibula Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Cleft hand with polydactyly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 6
Hemimelia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hemimyelia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Incomplete congenital absence of thigh AND leg Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Cleft hand - first cleft Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Transverse deficiency of arm, forearm level Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Cleft hand with syndactyly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 6
Split foot Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Cleft hand - central Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 6
Tongue absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Adams-Oliver syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Congenital hypodontia, multiple teeth, related to systemic disease Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Aglossia-adactyly syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Familial hypodontia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hypodontia and nail dysgenesis Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital hypodontia, multiple teeth, unrelated to systemic disease Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Partial congenital absence of teeth Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Familial hypodontia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Hypodontia and nail dysgenesis Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Congenital absent hemidiaphragm - bilateral Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Congenital absence of diaphragm Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital hypodontia, multiple teeth, related to systemic disease Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital hypodontia, multiple teeth, unrelated to systemic disease Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Partial absence of septum pellucidum (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Partial aphalangia of lower limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Tetra-amelia syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Tetra-amelia syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Tetra-amelia syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Tetra-amelia syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 5
Acephalostomia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Congenital complete absence of lower limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital complete absence of limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital tibial deficiency type III Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Split foot Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Partial aphalangia of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Aplasia cutis congenita Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Adams-Oliver syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Congenital absence of skin on scalp with epidermal naevi Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis in Trisomy 13 syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Hypoplasia of corpus callosum (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Mullerian aplasia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Partial agenesis of corpus callosum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect - isolated atrial component Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 5
Complete aphalangia of lower limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Congenital partial absence of alimentary tract Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Cor triloculare biventriculare (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Partial ablepharon Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Common atrioventricular canal Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 5
Transverse deficiency of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Partial aphalangia of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Known OR suspected fetal anencephaly affecting obstetrical care Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Congenital absence of liver and/or gallbladder (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Transverse deficiency of arm, upper arm level - short Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Transverse deficiency of arm, upper arm level - long Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absent right superior vena cava Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Absent bridging vein Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Holoanencephaly (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Poland anomaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 6
Anencephalus Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Anencephalus and similar anomalies Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Incomplete anencephaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Congenital absence of rectum with fistula (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Hemicentric sacral centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Hemimelia of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Chromosome 11p13 deletion syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 5
Deafness and oligodontia syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 4
Tibial aplasia and ectrodactyly syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 7
Congenital absence of half of thyroid (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Phocomelia Schinzel type (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Acrocallosal syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Phocomelia Schinzel type (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Cerebellum agenesis with hydrocephaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 2
X-linked lissencephaly with abnormal genitalia syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 7
Absence deformity of leg and congenital cataract syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Some 3

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