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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
40644015 Congenital absence en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
40644015 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
40648017 Congenital aplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
40649013 Agenesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
40649013 Agenesis 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 Only initial character 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 Existential restriction modifier (core metadata concept)
Congenital absence (morphologic abnormality) Is a anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence (morphologic abnormality) Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence (morphologic abnormality) Is a Absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Transverse deficiency lower limb - metatarsal level Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Amelia of lower limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete ablepharon Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Duane-radial ray syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectrodactyly (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
hémimélie d'un membre inférieur Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
hémimélie d'un membre inférieur Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Transverse deficiency lower limb - through femur Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
hémimélie d'un membre supérieur Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Transverse deficiency lower limb - through tibia/fibula Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft hand with polydactyly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
hémimélie Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemimyelia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Incomplete congenital absence of thigh AND leg Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft hand - first cleft Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
anomalie transverse du bras au niveau de l'avant-bras Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft hand with syndactyly (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
Split foot Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft hand - central (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
Tongue absent Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Adams-Oliver syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypodontia, multiple teeth, related to systemic disease Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Aglossia-adactyly syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial hypodontia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypodontia and nail dysgenesis Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypodontia, multiple teeth, unrelated to systemic disease Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial congenital absence of teeth (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial hypodontia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypodontia and nail dysgenesis Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital absent hemidiaphragm - bilateral (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital absence of diaphragm Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypodontia, multiple teeth, related to systemic disease Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypodontia, multiple teeth, unrelated to systemic disease Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial absence of septum pellucidum (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial aphalangia of lower limb (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetra-amelia syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetra-amelia syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Tetra-amelia syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Tetra-amelia syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Acephalostomia (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital complete absence of lower limb (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital complete absence of limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital tibial deficiency type III Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Split foot Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial aphalangia of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Aplasia cutis congenita (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita due to teratogenic drug (Type 7) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Adams-Oliver syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital absence of skin on scalp with epidermal nevi Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita following intra-uterine infection (Type 8) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis in Trisomy 13 syndrome Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculocerebrocutaneous syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplasia of corpus callosum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mullerian aplasia Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial agenesis of corpus callosum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrioventricular septal defect - isolated atrial component Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Complete aphalangia of lower limb (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital partial absence of alimentary tract Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cor triloculare biventriculare (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial ablepharon Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Common atrioventricular canal Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Transverse deficiency of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial aphalangia of upper limb Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Known OR suspected fetal anencephaly affecting obstetrical care Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital absence of liver and gallbladder (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of arm, upper arm level - short Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Transverse deficiency of arm, upper arm level - long (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent right superior vena cava Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent bridging vein Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoanencephaly (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Poland anomaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 6
Anencephalus (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Anencephalus and similar anomalies Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Incomplete anencephaly Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital absence of rectum with fistula (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hemicentric sacral centrum Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
hémimélie d'un membre supérieur Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 4
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 7
Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of cerebellum and hydrocephalus syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 7
Absence deformity of leg and congenital cataract syndrome (disorder) Associated morphology False Congenital absence (morphologic abnormality) Inferred relationship Existential restriction modifier (core metadata concept) 3

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