FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

24216005: Congenital absence (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

Expanded Value Set

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

Start Previous Page 16 of 20 Next End

Reference Sets

Body structure foundation reference set

Back to Start