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363070008: Developmental hereditary disorder (disorder)

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
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability, hypotonia, movement disorder syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Oculocerebrodental syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital myopathy with reduced type 2 muscle fibers	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability, short stature, overweight syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital isolated onychodysplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Diaphyseal medullary stenosis with bone malignancy (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
WARS2-related combined oxidative phosphorylation defect	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital vertebral, cardiac, renal anomalies syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Leri-Weill dyschondrosteosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Nievergelt's syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Infantile epileptic dyskinetic encephalopathy (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Neonatal epileptic encephalopathy due to glutaminase deficiency	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital insensitivity to pain, anosmia, neuropathic arthropathy	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cataract microcornea with corneal opacity	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 39	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Multiple mitochondrial dysfunctions syndrome type 6 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Multiple mitochondrial dysfunctions syndrome type 2 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Triopia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Mannosidosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
I-cell disease	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
GM1 gangliosidosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Sialic storage disease	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial articular hypermobility syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (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
11829571000172111	trouble développemental héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11829581000172114	trouble héréditaire du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5157601000172115	erfelijke ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5157611000172117	hereditaire ontwikkelingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)