21390004: gebrekkige ontwikkeling (afwijkende morfologie)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
gebrekkige ontwikkeling (afwijkende morfologie)	Is a	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
gebrekkige ontwikkeling (afwijkende morfologie)	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chudley-Lowry-Hoar-syndroom	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Fine Lubinsky syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Hair defect with photosensitivity and intellectual disability syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Hall Riggs syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Heart defect and limb shortening syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Heart-hand syndrome type 3 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	10
Deafness and intellectual disability Martin Probst type syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Dermo-odonto dysplasia (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Developmental malformation, deafness, dystonia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Hydrolethalus syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	11
Deaf blind hypopigmentation syndrome Yemenite type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Congenital malformation of tongue, mouth and pharynx	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Heart-hand syndrome type 2 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	8
Dermatoosteolysis Kirghizian type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	9
Oromandibular-limb hypogenesis spectrum	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Glossopalatine ankylosis (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Glossopalatine ankylosis (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Branchiogenic deafness syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Intellectual disability, epilepsy, bulbous nose syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Hidrotic ectodermal dysplasia Halal type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Hidrotic ectodermal dysplasia Halal type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Hidrotic ectodermal dysplasia Halal type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Holmes-Gang-syndroom	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Infection causing congenital anomaly	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
syndroom van hypertrichose en acromegaloïde aangezichtskenmerken (aandoening)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Juberg Hayward syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Juberg Hayward syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Juberg Hayward syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Juberg Marsidi syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Microphthalmia with brain and digit anomaly (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Puerto Rican infant hypotonia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Puerto Rican infant hypotonia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Puerto Rican infant hypotonia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Schilbach Rott syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Robinow-like syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Glossopalatine ankylosis (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Goldberg Shprintzen megacolon syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	9
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Hypomandibular faciocranial dysostosis (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Robinow-like syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Ostium primum defect	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Atrial septal defect with endocardial cushion defect, partial type	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Persistent ostium secundum	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Lutembacher's syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Malaligned atrial septum	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Double outlet right atrium	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Double outlet left atrium	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Congenital atrial septal defect (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Restrictive interatrial communication with obligatory shunt (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Blepharonasofacial malformation syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
BRESEK syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Joubert syndrome with orofaciodigital defect (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Limb mammary syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Lymphedema, atrial septal defect, facial changes syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Interatrial communication through coronary sinus orifice (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Thoracic insufficiency syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Klippel Trenaunay syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Joubert syndrome with orofaciodigital defect (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Microphthalmia with linear skin defect syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Joubert syndrome with orofaciodigital defect (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	9
Lowry MacLean syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Blepharocheilodontic syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Isotretinoin embryopathy-like syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Isotretinoin embryopathy-like syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Kapur Toriello syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Kapur Toriello syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
MEHMO syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Lethal hemolytic anemia and genital anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190336012	Developmental malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190337015	Developmental defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190338013	Dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190339017	Anomalous formation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190340015	Abnormal development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190341016	Malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
752081000146117	gebrekkige ontwikkeling (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
752091000146115	gebrekkige ontwikkeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
752101000146110	dysgenesie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
918701000146113	malformatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1882831000146116	abnormale ontwikkeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4399201000146112	misvorming	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)