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733066002: Trigonocephaly, short stature, developmental delay syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498662015 Trigonocephaly, short stature, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498663013 Trigonocephaly, short stature, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498664019 Say Meyer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499954015 Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4104711000172119 syndroom van Say-Meyer nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4104721000172112 syndroom van trigonocefalie, kleine gestalte en ontwikkelingsachterstand nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a Trigonocephaly true Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a Short stature disorder true Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a Developmental delay true Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) Associated morphology Congenital abnormal shape false Inferred relationship Some 2
Trigonocephaly, short stature, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Trigonocephaly, short stature, developmental delay syndrome (disorder) Finding site Frontal bone structure true Inferred relationship Some 2
Trigonocephaly, short stature, developmental delay syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Trigonocephaly, short stature, developmental delay syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 2
Trigonocephaly, short stature, developmental delay syndrome (disorder) Finding site Structure of frontal suture of skull false Inferred relationship Some 2
Trigonocephaly, short stature, developmental delay syndrome (disorder) Associated morphology Congenital abnormal shape false Inferred relationship Some 3
Trigonocephaly, short stature, developmental delay syndrome (disorder) Finding site Frontal bone structure false Inferred relationship Some 3
Trigonocephaly, short stature, developmental delay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Trigonocephaly, short stature, developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Trigonocephaly, short stature, developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Trigonocephaly, short stature, developmental delay syndrome (disorder) Finding site Structure of frontal suture of skull true Inferred relationship Some 1
Trigonocephaly, short stature, developmental delay syndrome (disorder) Associated morphology Congenital premature fusion true Inferred relationship Some 1
Trigonocephaly, short stature, developmental delay syndrome (disorder) Associated morphology Abnormal shape (morphologic abnormality) true Inferred relationship Some 2
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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