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24216005: Congenital absence (morphologic abnormality)


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

Descriptions:

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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence Is a Aplasia true Inferred relationship Existential restriction modifier
Congenital absence Is a Congenital anomaly false Inferred relationship Existential restriction modifier
Congenital absence Is a Congenital malformation false Inferred relationship Existential restriction modifier
Congenital absence Is a Absence false Inferred relationship Existential restriction modifier

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

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