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719394002: Microcephalus cleft palate syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3316160014 Microcephalus cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316161013 Microcephalus cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316162018 Microcephaly cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316193017 Halal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402081015 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402082010 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterised by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goitre, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalus cleft palate syndrome (disorder) Is a Microcephalus false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Cleft palate true Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Microcephalus cleft palate syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Finding site Brain structure false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Finding site Face structure true Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 5
Microcephalus cleft palate syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 5
Microcephalus cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) Finding site Palatal structure true Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Finding site Brain structure false Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Finding site Bone structure of head false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Finding site Head structure true Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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