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1162976004: X-linked recessive hereditary disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4592775017 X-linked recessive hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4592776016 X-linked recessive hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

212 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked recessive hereditary disease est un(e) (attribut) X-linked hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Infantile epileptic dyskinetic encephalopathy (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Intellectual disability, alacrima, achalasia syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
MEHMO syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Isolated congenital megalocornea (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Lesch-Nyhan syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Lenz microphthalmia syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Lowe syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Menkes kinky-hair syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
McLeod neuroacanthocytosis syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Allan-Herndon-Dudley syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Mucopolysaccharidosis, MPS-II est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Ocular albinism with late-onset sensorineural deafness (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Oro-facial digital syndrome type 8 (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease, classic form est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease, connatal variant (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Type III transitional Pelizaeus-Merzbacher disease est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
syndrome d'insensibilité partielle aux androgènes est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease null syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Pelizaeus-Merzbacher disease in female carrier est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Renpenning syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
syndrome de déficience intellectuelle sévère-microcéphalie postnatale progressive-stéréotypies manuelles sur la ligne médiane est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Simpson-Golabi-Behmel syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Spondylometaphyseal dysplasia Golden type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Syndromic X-linked intellectual disability type 11 (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Syndromic X-linked intellectual disability type 7 (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X chromosome-linked sideroblastic anemia (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked agammaglobulinemia with growth hormone deficiency est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked calvarial hyperostosis est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked spastic paraplegia type 16 (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked corneal dermoid (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked mendelian susceptibility to mycobacterial disease (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked hydrocephalus syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked hyper-IgM syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked dystonia parkinsonism est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked spastic paraplegia type 34 est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked ichthyosis with steryl-sulfatase deficiency est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked Emery-Dreifuss muscular dystrophy est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Partington syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Abidi type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Cabezas type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability Hedera type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with marfanoid habitus (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome est un(e) (attribut) True X-linked recessive 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) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked lymphoproliferative syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Christianson syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked mandibulofacial dysostosis (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked myopathy with postural muscle atrophy (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked non progressive cerebellar ataxia (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked thrombocytopenia with normal platelets (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Juvenile retinoschisis est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Severe X-linked myotubular myopathy (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Combined immunodeficiency due to moesin deficiency (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome est un(e) (attribut) True X-linked recessive hereditary disease Inferred relationship Some

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