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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
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2127 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
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
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. 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 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
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes. Is a True Developmental hereditary disorder Inferred relationship Some
Gardner syndrome (disorder) 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 rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. 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, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests). 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
atrésies gastro-intestinales multiples Is a False Developmental hereditary disorder Inferred relationship Some
syndrome de Cayler 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
A rare hereditary patellar dysostosis characterised by 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 rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. 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
Crouzon disease is characterised by craniosynostosis and facial hypoplasia. 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
A rare genetic multiple congenital anomalies characterized by deafness and defects in neural crest-derived structures, including pigmentation anomalies of the eyes, hair, and skin. Four clinical phenotypes are associated with the term Waardenburg syndrome (WS). 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
A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. Is a True Developmental hereditary disorder Inferred relationship Some
Centrofacial lentiginosis syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Schinzel-Giedion syndrome Is a True Developmental hereditary disorder Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. 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
Xeroderma, talipes and enamel defect syndrome (disorder) 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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