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
Hypertelorism Teebi type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Isolated hypoplasia of optic nerve (disorder)	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
46,XY partial gonadal dysgenesis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cryptomicrotia brachydactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Crisponi syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniomicromelic syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniolenticulosutural dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital short costocoracoid ligament (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Temple Baraitser syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Omodysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
5-amino-4-imidazole carboxamide ribosiduria (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial male-limited precocious puberty (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Polydactyly of biphalangeal thumb (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive faciodigitogenital syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Bullous dystrophy macular type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Genochondromatosis type 2 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Infundibulopelvic stenosis multicystic kidney syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability Buenos Aires type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Neurofaciodigitorenal syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability Brooks type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ptosis, strabismus, ectopic pupil syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Scalp defect postaxial polydactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial isolated congenital asplenia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability Hedera type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability Nascimento type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive amelia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cleft lip retinopathy syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Coxoauricular syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Bone dysplasia lethal Holmgren type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cyprus facial neuromusculoskeletal syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Marfanoid syndrome De Silva type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Symphalangism with multiple anomalies of hands and feet syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly and distal symphalangism syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Brachydactyly and preaxial hallux varus syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spastic paraplegia with precocious puberty syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital hypoplasia of ulna and split foot syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Epilepsy telangiectasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Dermatoleukodystrophy	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hemifacial hyperplasia strabismus syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Marfanoid habitus with autosomal recessive intellectual disability syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Duplication of eyebrow and syndactyly syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Stimmler syndrome	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Pseudoprogeria syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Polydactyly myopia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Isolated hereditary congenital facial paralysis (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Banki syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Dandy-Walker malformation with postaxial polydactyly syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Van den Bosch syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aniridia, renal agenesis, psychomotor retardation syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked retinal dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ulna metaphyseal dysplasia syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ameloonychohypohidrotic syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Craniofrontonasal dysplasia (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Mirror hands and feet co-occurrent with nasal defect (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Syndactyly of fingers type 8 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 2 (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aplasia of fibula co-occurrent with complex brachydactyly (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)