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

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