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128430005: X-linked hereditary disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
206738018 X-linked hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
732421011 X-linked hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

361 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked hereditary disease est un(e) (attribut) Sex-linked hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Deafness and intellectual disability Martin Probst type syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Holmes Gang syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Juberg Marsidi syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Microphthalmia with linear skin defect syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
MEHMO syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome oto-palato-digital type 2 (trouble) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome oto-palato-digital type 1 (trouble) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Ocular albinism with late-onset sensorineural deafness (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Albinism with deafness syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Early-onset X-linked optic atrophy (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Oro-facial digital syndrome type 8 (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
N syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome de dysplasie osseuse terminale-défauts de pigmentation est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked spastic paraplegia type 2 (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Simpson Golabi Behmel syndrome type 2 (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Pierre Robin sequence faciodigital anomaly syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Renier Gabreels Jasper syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
McLeod neuroacanthocytosis syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
dystrophie cornéenne de Lisch est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Aland Islands eye disease (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Hypohidrotic X-linked ectodermal dysplasia est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked muscular dystrophy not predominantly limb girdle est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Bullous dystrophy macular type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Brooks type (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked hereditary spastic paraplegia (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability Hedera type (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
déficience intellectuelle liée à l'X type Nascimento est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Chromosome Xp22.3 microdeletion syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-diabète insipide est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Beta-propeller protein-associated neurodegeneration (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked hyper-IgM syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Congenital disorder of glycosylation type 1s est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Choroideremia est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Congenital disorder of glycosylation type 1y est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Isolated congenital megalocornea (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
SCARF syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
2-methyl-3-hydroxybutyric aciduria (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
incontinentia pigmenti est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Ocular albinism, type II est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Oculo-palato-digital syndrome est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Adrenomyodystrophy (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked hereditary motor and sensory neuropathy est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked lethal multiple pterygium syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Intellectual disability, alacrima, achalasia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Fragile X associated tremor ataxia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Agenesis of corpus callosum and abnormal genitalia syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Oro-facial digital syndrome type 1 (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
syndrome de duplication Xq12-q13.3 est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked agammaglobulinemia with growth hormone deficiency est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked muscular dystrophy with limb girdle distribution est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X chromosome-linked sideroblastic anemia (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked non progressive cerebellar ataxia (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked cleft palate and ankyloglossia est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Otopalatodigital syndrome est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked spondyloepimetaphyseal dysplasia (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
amyotrophie spinale avec détresse respiratoire type 2 est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Absent radius, anogenital anomalies syndrome (disorder) est un(e) (attribut) True X-linked hereditary disease Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) False X-linked hereditary disease Inferred relationship Some

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