24216005: Congenital absence (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\...

\Absence (morphologic abnormality)\Aplasia\Congenital absence (morphologic abnormality)

\Growth alteration\Maturation defect\Aplasia\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:

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
Transverse deficiency lower limb - metatarsal level	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Transverse deficiency lower limb - hip level	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Complete ablepharon	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Duane-radial ray syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Ectrodactyly	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Hemimelia of lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Hemimelia of lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Transverse deficiency lower limb - through femur	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Hemimelia of upper limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Transverse deficiency lower limb - through tibia/fibula	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Cleft hand with polydactyly	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	6
hémimélie	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Hemimyelia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Incomplete congenital absence of thigh AND leg	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Cleft hand - first cleft	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Transverse deficiency of arm, forearm level	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Cleft hand with syndactyly	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	6
Split foot	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Cleft hand - central	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	6
Tongue absent	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Adams-Oliver syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital hypodontia, multiple teeth, related to systemic disease	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Aglossia-adactyly syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Familial hypodontia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Hypodontia and nail dysgenesis	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital hypodontia, multiple teeth, unrelated to systemic disease	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Partial congenital absence of teeth	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Familial hypodontia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Hypodontia and nail dysgenesis	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Congenital absent hemidiaphragm - bilateral	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Congenital absence of diaphragm	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital hypodontia, multiple teeth, related to systemic disease	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital hypodontia, multiple teeth, unrelated to systemic disease	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Partial absence of septum pellucidum (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Partial aphalangia of lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Tetra-amelia syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Tetra-amelia syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Tetra-amelia syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Tetra-amelia syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	5
Acephalostomia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Congenital complete absence of lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital complete absence of limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital tibial deficiency type III	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Split foot	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Partial aphalangia of upper limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Aplasia cutis congenita	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis congenita associated with fetus papyraceus (Type 5) (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis in Johanson-Blizzard syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Adams-Oliver syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Congenital absence of skin on scalp with epidermal naevi	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis congenita following intra-uterine infection (Type 8) (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis in Trisomy 13 syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Oculocerebrocutaneous syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Hypoplasia of corpus callosum (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Mullerian aplasia	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
WNT4 Mullerian aplasia and ovarian dysfunction	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Partial agenesis of corpus callosum	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Atrioventricular septal defect - isolated atrial component	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	5
Complete aphalangia of lower limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Congenital partial absence of alimentary tract	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Cor triloculare biventriculare (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Partial ablepharon	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Common atrioventricular canal	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	5
Transverse deficiency of upper limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Partial aphalangia of upper limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Known OR suspected fetal anencephaly affecting obstetrical care	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Congenital absence of liver and/or gallbladder (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Transverse deficiency of arm, upper arm level - short	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Transverse deficiency of arm, upper arm level - long	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Absent right superior vena cava	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Absent bridging vein	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Holoanencephaly (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Poland anomaly	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	6
Anencephalus	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Anencephalus and similar anomalies	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Incomplete anencephaly	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Congenital absence of rectum with fistula (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
hemicentrisch centrum van sacrale wervel	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Hemimelia of upper limb	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	5
Deafness and oligodontia syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	4
Tibial aplasia and ectrodactyly syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	7
Congenital absence of half of thyroid (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Phocomelia Schinzel type (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Acrocallosal syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Phocomelia Schinzel type (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Cerebellum agenesis with hydrocephaly	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	2
X-linked lissencephaly with abnormal genitalia syndrome	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	7
Absence deformity of leg and congenital cataract syndrome (disorder)	Associated morphology	False	Congenital absence (morphologic abnormality)	Inferred relationship	Some	3

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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
40645019	Congenital absence, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
40646018	Congenital aplasia, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
40647010	Agenesis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
40648017	Congenital aplasia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
40649013	Agenesis	en	Synonym (core metadata concept)	Inactive	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
7783721000172111	congenitale afwezigheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7783731000172114	aangeboren afwezigheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)