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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

21 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital macrocephaly (disorder) Is a Congenital anomaly of head true Inferred relationship Some
Congenital macrocephaly (disorder) Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 1
Congenital macrocephaly (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital macrocephaly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital macrocephaly (disorder) Interprets Head circumference true Inferred relationship Some 2
Congenital macrocephaly (disorder) Has interpretation Above reference range true Inferred relationship Some 2
Congenital macrocephaly (disorder) Is a Macrocephaly (finding) true Inferred relationship Some
Congenital macrocephaly (disorder) Finding site Head structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Bannayan syndrome Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Macrocephaly and developmental delay syndrome Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Macrocephaly, intellectual disability, autism syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Malan overgrowth syndrome Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Heide syndrome Is a True Congenital macrocephaly (disorder) Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Congenital macrocephaly (disorder) Inferred relationship Some
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Is a True Congenital macrocephaly (disorder) Inferred relationship Some

This concept is not in any reference sets

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