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:

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

1704881000005117 Hereditær udviklingssygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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
A very rare syndrome described in three siblings of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Sotos' syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Grebe syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Baller-Gerold syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Stickler syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Lowe syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cleidocranial dysostosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrodysostosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pili torti-deafness syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Rothmund-Thomson syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Maroteaux-Lamy syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pendred's syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
X-linked hydrocephalus syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aase syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Marshall-Smith syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Dyskeratosis congenita	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Gardner syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Epidermolysis bullosa	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Jarcho-Levin syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Glycogenosis with glucoaminophosphaturia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Turcot syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Larsen syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Alstrom syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pelizaeus-Merzbacher disease	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Immotile cilia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Achondroplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Zellweger syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Shwachman syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Albinotic fundus	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Cohen syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Rhizomelic chondrodysplasia punctata syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Achromatopsia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Retinitis pigmentosa-deafness syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Seckel syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Diastrophic dysplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Menkes kinky-hair syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Aicardi's syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Marinesco-Sjögren syndrome (disorder)	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Opitz-Frias syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Beckwith-Wiedemann syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive.	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Neurofibromatosis type 2	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Neurofibromatosis type 1	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Lethal Kniest-like syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hypogonadism with anosmia	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Rolland-Debuqois syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Multiple gastrointestinale atresier	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Caylers kardiofaciale syndrom	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Werner syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Kniest dysplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hidrotic ectodermal dysplasia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Cockayne syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Borjeson-Forssman-Lehmann syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Polyostotic fibrous dysplasia of bone	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Familial adrenocortical hypoplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Laron-type isolated somatotropin defect	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pachyonychia congenita syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Fanconi's anemia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Arteriohepatic dysplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Hyperphosphatasaemia with intellectual disability	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Adams-Oliver syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Oligohydramnios sequence	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Dubin-Johnson syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Pyle metaphyseal dysplasia	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Polycystic kidney disease, infantile type	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Rubinstein-Taybi syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Congenital nephrotic syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Osteosclerosis	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported.	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Centrofacial lentiginosis syndrome (disorder)	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Schinzel-Giedion syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1).	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Prune belly syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Bardet-Biedl syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
XTE syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	False	Developmental hereditary disorder	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Is a	True	Developmental hereditary disorder	Inferred relationship	Some
Distichiasis-lymphedema syndrome	Is a	False	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
1704881000005117	Hereditær udviklingssygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)