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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
482205012 Developmental hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Developmental hereditary disorder Is a Developmental disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental hereditary disorder Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Distichiasis-lymphedema syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mandibuloacral dysostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentin dysplasia, type II (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple lentigines syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Leprechaunism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary vascular fragility (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Benign congenital myopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hennekam lymphangiectasia-lymphoedema syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Drash syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
hypogonadisme, diabète sucré, alopécie, arriération mentale et anomalies électrocardiographiques Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hyaline fibromatosis (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Laurence-Moon syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stationary night blindness Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia with radial ray hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cryptophthalmos syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital blue dot cataract (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Axenfeld anomaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Total intestinal aganglionosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type I Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Goldenhar syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasia epiphysealis hemimelica (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metachondromatosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniodiaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Focal dermal hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gorlin-Chaudhry-Moss syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oculo-palato-digital syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple pterygium syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Noonan's syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hypohidrotic X-linked ectodermal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Odontotrichomelic syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary clubbing Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis multiplex group Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sutural cataract (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Megacystis, microcolon, hypoperistalsis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pseudodiastrophic dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachyolmia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acromicric dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Desbuquois syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Geroderma osteodysplastica Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Francois syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Marie Unna syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary splenic hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Floating-Harbor syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Kabuki make-up syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inherited arthrogryposis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Incontinentia pigmenti syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Jervell and Lange-Nielsen syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital adrenal hypoplasia, X-linked (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with marfanoid habitus (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Oto-onycho-peroneal syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lenz microphthalmia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Simpson-Golabi-Behmel syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta type I (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dystrophia brevicollis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Blomstrand dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Raine dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloenchondromatosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrokeratosis verruciformis of Hopf (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nicolaides-Baraitser syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary mucoepithelial dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalopolysyndactyly type II Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary neurocutaneous angiomata (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia punctata of Happle Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chudley Lowry Hoar syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
CODAS syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Blepharocheilodontic syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Blepharonasofacial malformation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Blepharoptosis, myopia, ectopia lentis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterised by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Branchiogenic deafness syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial median cleft of upper and lower lip Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Abruzzo Erickson syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Atkin type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 7 (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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