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
Lethal hemolytic anemia and genital anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Isotretinoin embryopathy-like syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Hypertelorism with microtia and facial clefting syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	10
Macrocephaly, short stature, paraplegia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Karsch Neugebauer syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Hypogonadism with anosmia	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Isolated anterior cervical hypertrichosis (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Klippel Trenaunay syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Johnson neuroectodermal syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Kallman syndrome with heart disease (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Oculopalatocerebral syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Oculocerebrofacial syndrome Kaufman type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Oculocerebrofacial syndrome Kaufman type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Oculoosteocutaneous syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Book syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Bamforth Lazarus syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Bamforth Lazarus syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Catel Manzke syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	8
Oculotrichodysplasia (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Oculogastrointestinal muscular dystrophy (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Matthew Wood syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Matthew Wood syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
DK phocomelia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Autosomal recessive popliteal pterygium syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Intellectual disability, developmental delay, contracture syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Ectodermal dysplasia with blindness syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Ectodermal dysplasia with blindness syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Fuhrmann syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Galloway Mowat syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Oro-facial digital syndrome type 5 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Oro-facial digital syndrome type 5 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie (aandoening)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Severe X-linked intellectual disability Gustavson type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Ackerman syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Auriculoocular anomaly and cleft lip syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
syndroom van autisme en faciale naevus flammeus	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Double uterus, hemivagina, renal agenesis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Double uterus, hemivagina, renal agenesis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Dystrophic epidermolysis bullosa nails only (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Dystrophic epidermolysis bullosa nails only (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Meacham syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Meacham syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Meacham syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Toriello Carey syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Familial caudal dysgenesis (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Laryngo-onycho-cutaneous syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Ectodermal dysplasia with blindness syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Oro-facial digital syndrome type 10 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Oro-facial digital syndrome type 5 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Oro-facial digital syndrome type 8 (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Palmoplantar keratoderma Nagashima type (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Perlman syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Auriculoocular anomaly and cleft lip syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Ackerman syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Congenital malformation of autonomic nervous system (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Palmoplantar keratoderma with deafness syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Aganglionosis of large intestine (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Congenital developmental anomaly of cystic duct (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	1
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	6
Gomez Lopez Hernandez syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Basal epidermolysis bullosa simplex (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast	Direct morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	2
Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast	Indirect morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
Endocrine-cerebro-osteodysplasia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Endocrine-cerebro-osteodysplasia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	5
Endocrine-cerebro-osteodysplasia syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Faciocardiorenal syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	4
Fallot complex with intellectual disability and growth delay syndrome	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	9
Epidermolysis bullosa simplex with muscular dystrophy (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	7
Faciocardiorenal syndrome (disorder)	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3
familiair multipel fibrofolliculoom	Associated morphology	False	gebrekkige ontwikkeling (afwijkende morfologie)	Inferred relationship	Some	3

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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
188572017	Developmental malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188573010	Developmental anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188574016	Developmental defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188575015	Congenital anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190332014	Anomalous formation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190333016	Abnormal development, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190334010	Congenital abnormality, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190335011	Malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
190342011	Congenital malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190343018	Congenital defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190344012	Congenital deformity, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190345013	Dysgenesis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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)