363070008: hereditaire ontwikkelingsstoornis (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Developmental hereditary disorder

\Developmental disorder\Developmental hereditary disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental hereditary disorder	Is a	Hereditary disease	true	Inferred relationship	Some
Developmental hereditary disorder	Is a	Developmental disorder	true	Inferred relationship	Some
Developmental hereditary disorder	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mandibular hypoplasia, deafness, progeroid syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking (aandoening)	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Chudley McCullough syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniofacial dysplasia osteopenia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Progeroid and marfanoid aspect, lipodystrophy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial infantile gigantism (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Distal Xq28 microduplication syndrome	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondylo-megaepiphyseal-metaphyseal dysplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pitt-Hopkins-achtig syndroom (aandoening)	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness with onychodystrophy syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Emery Nelson syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ataxia, photosensitivity, short stature syndrome	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Rare non-syndromic intellectual disability (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
perifere dysostose	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pancytopenia with developmental delay syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Trichorhinophalangeal syndrome type 1 and 3	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary elliptocytosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Mullerian aplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant familial woolly hair	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive familial woolly hair	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Macular corneal dystrophy	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Erythrokeratodermia variabilis	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Focal facial dermal dysplasia type I	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Focal facial dermal dysplasia type II	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Focal facial dermal dysplasia type IV (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Blue cone monochromatism (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Woodhouse Sakati syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Periventricular nodular heterotopia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial hypospadias of penis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive asexual dwarfism	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked asexual dwarfism	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary camptodactyly	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Antley-Bixler syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Coralliform cataract (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocardiofacial syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Bilateral frontoparietal polymicrogyria (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Megalencephaly capillary malformation	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type D (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly type A3 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant polycystic liver disease	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Jackson-Weiss syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial spinal neurofibromatosis	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Type 3 lissencephaly	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Genochondromatosis type 1 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Osteogenesis imperfecta type 5 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked congenital generalized hypertrichosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Wrinkly skin syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Fibrous skin tumor of tuberous sclerosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pulmonary tuberous sclerosis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ash leaf spot, tuberous sclerosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
17q11 deletion syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital epithelial dysplasia of intestine (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Amish lethal microcephaly (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
482205012	Developmental hereditary disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754853019	Developmental hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6471201000146118	hereditaire ontwikkelingsstoornis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6471211000146116	erfelijke ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6471221000146114	hereditaire ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)