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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
5403705013 A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403706014 A rare developmental defect during embryogenesis characterised by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. 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
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 false 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
Trigonocephaly, short stature, developmental delay syndrome (disorder) Associated morphology Premature fusion true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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