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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
40645019 Congenital absence, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
40646018 Congenital aplasia, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
40647010 Agenesis, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
40648017 Congenital aplasia en Synonym Inactive Only initial character case insensitive SNOMED CT core module
40649013 Agenesis en Synonym Inactive 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
Absence deformity of leg and congenital cataract syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Tetraamelia with multiple malformation syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Tetraamelia with multiple malformation syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Ablepharon macrostomia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 4
Atrichia with papular lesions Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Partial agenesis of pancreas Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 9
Autosomal dominant palmoplantar keratoderma and congenital alopecia Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 9
Absence of fingerprints with congenital milia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Absence of fingerprints with congenital milia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Absent thumb with short stature and immunodeficiency syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Vici syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 5
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 4
Anonychia with bizarre flexural pigmentation Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Bilateral congenital absence of ovary Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Bilateral congenital absence of ovary Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Bilateral congenital absence of fallopian tube Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Bilateral congenital absence of fallopian tube Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Mayer-Rokitansky-Küster-Hauser syndrome type 2 Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of bladder and urethra Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of bladder and urethra Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Taurodontia with absent teeth and sparse hair syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 7
Anencephaly without rachischisis Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Aniridia and absent patella syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Aniridia and intellectual disability syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Anophthalmia plus syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Aplasia cutis with myopia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Aplasia cutis congenita with intestinal lymphangiectasia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Arrhinia with choanal atresia and microphthalmia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Anonychia with microcephaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Aphalangy and syndactyly with microcephaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Anophthalmia plus syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Incomplete congenital absence of thigh AND leg Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 7
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Aniridia, ptosis, intellectual disability, familial obesity syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 7
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 4
Curry Jones syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 5
Choroidal atrophy and alopecia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 8
Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 4
Short tarsus with absence of lower eyelashes syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of pelvis and lower limb Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Aplasia of fibula and ectrodactyly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 5
Lung agenesis with heart defect and thumb anomaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Agenesis of internal carotid artery Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Scalp, ear, nipple syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 5
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 5
Karsch Neugebauer syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 9
Intellectual disability, balding, patella luxation, acromicria syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 5
Congenital absence of gastric muscle Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Gomez Lopez Hernandez syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 6
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 4
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Lumbosacral agenesis Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Aplasia cutis congenita with epibulbar dermoid syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Autosomal recessive aplasia cutis congenita of limb Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Split hand, split foot malformation with sensorineural hearing loss syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 8
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Omocephalus Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Omocephalus Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Acephalobrachius Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Fetal anencephaly Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Anencephaly without rachischisis Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Sirenomelus Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Pericardial and diaphragmatic defect syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 7
Familial isolated congenital asplenia Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Autosomal recessive amelia Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Craniosynostosis fibular aplasia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 10
Congenital hypoplasia of ulna and split foot syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 6
Pseudoprogeria syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 9
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Aniridia, renal agenesis, psychomotor retardation syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Pseudoprogeria syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 8
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 4
Congenital absence of optic chiasma Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 6
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 4
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 5
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 6
Congenital absence of right mandibular condyle Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of left mandibular condyle Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Agenesis of left kidney Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Agenesis of right kidney Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Agenesis of left kidney co-occurrent with hypoplasia of right kidney Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Agenesis of right kidney co-occurrent with hypoplasia of left kidney Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 3
Isolated congenital adermatoglyphia Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of left hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Agenesis of corpus callosum and abnormal genitalia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Odonto onycho dysplasia with alopecia syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Intellectual disability, spasticity, ectrodactyly syndrome Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 2
Congenital absence of right hand Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1
Congenital absence of innominate vein Associated morphology False Congenital absence Inferred relationship Existential restriction modifier 1

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