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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 est un(e) (attribut) Aplasia true Inferred relationship Some
Congenital absence est un(e) (attribut) Congenital anomaly false Inferred relationship Some
Congenital absence est un(e) (attribut) Congenital malformation false Inferred relationship Some
Congenital absence est un(e) (attribut) Absence (morphologic abnormality) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Tetra-amelia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Tetra-amelia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Acephalostomia morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Congenital absence of lower limb morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Amelia morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital tibial deficiency type III morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Split foot morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Partial aphalangia of upper limb morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
aplasia cutis congenita (trouble) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis in Johanson-Blizzard syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
syndrome d'Adams-Oliver (trouble) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Congenital absence of skin on scalp with epidermal naevi morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis in Trisomy 13 syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Oculocerebrocutaneous syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Hypoplasia of corpus callosum morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Mullerian aplasia morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
WNT4 Mullerian aplasia and ovarian dysfunction morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Partial agenesis of corpus callosum morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
canal atrioventriculaire, composante atriale isolée morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Complete aphalangia of lower limb morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital partial absence of alimentary tract morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Common atrium morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Partial ablepharon morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Common atrioventricular canal morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Transverse deficiency of upper limb morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Partial aphalangia of upper limb morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Known OR suspected fetal anencephaly affecting obstetrical care (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Congenital absence of liver and/or gallbladder (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Transverse deficiency of arm, upper arm level - short morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Transverse deficiency of arm, upper arm level - long morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Absent right superior vena cava morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Absent bridging vein morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Holoanencephaly (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Poland anomaly morphologie associée (attribut) False Congenital absence Inferred relationship Some 6
Anencephalus morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Anencephalus and similar anomalies morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Incomplete anencephaly morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Congenital absence of rectum with fistula morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Hemicentric sacral centrum morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Hemimelia of upper limb morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Hemicephaly morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Chromosome 11p13 deletion syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Deafness and oligodontia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Tibial aplasia and ectrodactyly syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 7
Congenital absence of half of thyroid (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Phocomelia Schinzel type (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Acrocallosal syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Phocomelia Schinzel type (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Cerebellum agenesis with hydrocephaly morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
X-linked lissencephaly with abnormal genitalia syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 7
Absence deformity of leg and congenital cataract syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Tetraamelia with multiple malformation syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Tetraamelia with multiple malformation syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Ablepharon macrostomia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Atrichia with papular lesions (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Congenital absence of multiple toes morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Partial agenesis of pancreas (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 9
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 9
Absence of fingerprints with congenital milia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Absence of fingerprints with congenital milia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Absent thumb with short stature and immunodeficiency syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Vici syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 5
Temtamy syndrome morphologie associée (attribut) False Congenital absence Inferred relationship Some 4
Anonychia with bizarre flexural pigmentation morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Bilateral congenital absence of ovary (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Bilateral congenital absence of ovary (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Bilateral congenital absence of fallopian tube (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Bilateral congenital absence of fallopian tube (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Mayer-Rokitansky-Küster-Hauser syndrome type 2 (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Congenital absence of bladder and urethra (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Congenital absence of bladder and urethra (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Taurodontia with absent teeth and sparse hair syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 7
Anencephaly without rachischisis (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Aniridia and absent patella syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Aniridia and intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1
Anophthalmia plus syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Aplasia cutis with myopia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Anonychia with microcephaly syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Aphalangy and syndactyly with microcephaly syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Anophthalmia plus syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Incomplete congenital absence of thigh AND leg morphologie associée (attribut) False Congenital absence Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 7
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 3
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) morphologie associée (attribut) False Congenital absence Inferred relationship Some 1

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