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1145402008: Congenital macrocephaly (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4545798015 Congenital macrocephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4545799011 Congenital macrocephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4545798015 Congenital macrocephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4545799011 Congenital macrocephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
954061000195112 macrocefalia congenita it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
411921000274111 Angeborene Makrozephalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
670761000274118 Kongenitale Makrozephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5857781000241117 macrocéphalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5857781000241117 macrocéphalie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954061000195112 macrocefalia congenita it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
411921000274111 Angeborene Makrozephalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
670761000274118 Kongenitale Makrozephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

21 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital macrocephaly Is a Congenital anomaly of head true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital macrocephaly Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital macrocephaly Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital macrocephaly Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital macrocephaly Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital macrocephaly Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital macrocephaly Is a Macrocephaly (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital macrocephaly Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Bannayan syndrome Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly and developmental delay syndrome (disorder) Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Fryns macrocephaly Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, autism syndrome Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Malan overgrowth syndrome Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Overgrowth, macrocephaly, facial dysmorphism syndrome Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Atkin type (disorder) Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Is a True Congenital macrocephaly Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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