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363070008: Developmental hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482205012 Developmental hereditary disorder en Synonym Active Case insensitive SNOMED CT core
754853019 Developmental hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

2064 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Pathological process Pathological developmental process true Inferred relationship Some 1
Developmental hereditary disorder Is a Hereditary disease true Inferred relationship Some
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary hypotrichosis with recurrent skin vesicles syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Isolated optic nerve hypoplasia Is a True Developmental hereditary disorder Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial scaphocephaly syndrome McGillivray type Is a True Developmental hereditary disorder Inferred relationship Some
46,XY partial gonadal dysgenesis Is a True Developmental hereditary disorder Inferred relationship Some
Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Crisponi syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniomicromelic syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniolenticulosutural dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Congenital short costocoracoid ligament Is a True Developmental hereditary disorder Inferred relationship Some
Temple Baraitser syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Atrial septal defect, atrioventricular conduction defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Omodysplasia Is a True Developmental hereditary disorder Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Is a True Developmental hereditary disorder Inferred relationship Some
Familial male-limited precocious puberty Is a True Developmental hereditary disorder Inferred relationship Some
Polydactyly of biphalangeal thumb Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive faciodigitogenital syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III Is a True Developmental hereditary disorder Inferred relationship Some
Bullous dystrophy macular type Is a True Developmental hereditary disorder Inferred relationship Some
Genochondromatosis type 2 Is a True Developmental hereditary disorder Inferred relationship Some
Infundibulopelvic stenosis multicystic kidney syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability Buenos Aires type Is a True Developmental hereditary disorder Inferred relationship Some
Neurofaciodigitorenal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
TARP syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Brooks type Is a True Developmental hereditary disorder Inferred relationship Some
CAMOS syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ptosis, strabismus, ectopic pupil syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Scalp defect postaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Weaver Williams syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pfeiffer Palm Teller syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Is a True Developmental hereditary disorder Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial isolated congenital asplenia Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Hedera type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Nascimento type Is a True Developmental hereditary disorder Inferred relationship Some
Eng Strom syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive amelia Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cleft lip retinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Coxoauricular syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Bone dysplasia lethal Holmgren type Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis fibular aplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cyprus facial neuromusculoskeletal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Marfanoid syndrome De Silva type Is a True Developmental hereditary disorder Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Czeizel Losonci syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Symphalangism with multiple anomalies of hands and feet Is a True Developmental hereditary disorder Inferred relationship Some
Sillence syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Lambert syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital hypoplasia of ulna and split foot syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Epilepsy telangiectasia syndrome 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
Bencze syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Bonnemann Meinecke Reich syndrome 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
OSLAM syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Eyebrow duplication syndactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Stimmler syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Pseudoprogeria syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Polydactyly myopia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Preaxial polydactyly, colobomata, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Isolated hereditary congenital facial paralysis Is a True Developmental hereditary disorder Inferred relationship Some
Mikati Najjar Sahli syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Banki syndrome 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
Mononen Karnes Senac syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Van den Bosch syndrome 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 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 Is a True Developmental hereditary disorder Inferred relationship Some
Ulna metaphyseal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 Is a True Developmental hereditary disorder Inferred relationship Some
Cerebellar ataxia and ectodermal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Amelo-onycho-hypohidrotic syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniofrontonasal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration Is a True Developmental hereditary disorder Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly of fingers type 8 Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly with cervical spine fusion anomaly Is a True Developmental hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 2 Is a True Developmental hereditary disorder Inferred relationship Some
Seemanova Lesny syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Reardon Hall Slaney syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Reinhardt Pfeiffer mesomelic dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Fibular aplasia and complex brachydactyly Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism Toriello type Is a True Developmental hereditary disorder Inferred relationship Some

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