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363070008: Developmental hereditary disorder (disorder)

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

Descriptions:

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

2110 descendants. Search Descendants:

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 Is a False 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, arginine vasopressin deficiency (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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