24216005: congenitale afwezigheid (afwijkende morfologie)

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	congenitale anomalie (afwijkende morfologie)	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-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening)	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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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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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
752661000146118	agenesie (afwijkende morfologie)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
752671000146112	agenesie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
916581000146111	congenitale afwezigheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
916591000146113	aangeboren afwezigheid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4676411000146116	congenitale afwezigheid (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)