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1162984000: X-linked dominant 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
4592777013 X-linked dominant hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4592778015 X-linked dominant hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4592777013 X-linked dominant hereditary disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
4592778015 X-linked dominant hereditary disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

45 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked dominant hereditary disease (disorder) Is a X-linked hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Chondrodysplasia punctata, X-linked dominant type (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Charcot-Marie-Tooth disease type 6 (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Is a True X-linked dominant hereditary disease (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 X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
2-methyl-3-hydroxybutyric aciduria Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Atkin type (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi's syndrome Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alport syndrome X-linked (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
CASK related intellectual disability Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X syndrome Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Focal dermal hypoplasia Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile gigantism (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X associated tremor ataxia syndrome (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Incontinentia pigmenti syndrome Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lisch epithelial corneal dystrophy Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nance-Horan syndrome (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculofaciocardiodental syndrome (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
STAR syndrome Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked congenital generalized hypertrichosis Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked immunoneurologic disorder Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PPM-X syndrome Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Adrenoleukodystrophy Is a False X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare disorder of haem metabolism characterised by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, hypotonia, movement disorder syndrome Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rett syndrome Is a True X-linked dominant hereditary disease (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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