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1172889005: Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4636347017 Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636348010 Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636349019 Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4636350019 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth) and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly and hypoplastic toenails) a single palmar crease, lower limb hypertonia, joint hypermobility along with ocular and urogenital anomalies. 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
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a Intellectual disability true Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a Malformation of teeth (disorder) true Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a Congenital anomaly of palate true Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a Global developmental delay true Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a Congenital anomaly of tooth (disorder) true Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a Diastema of teeth (finding) true Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a Genetic disease true Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Interprets Spacing of teeth (observable entity) true Inferred relationship Some 4
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Has interpretation Increased true Inferred relationship Some 4
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence Congenital true Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Finding site Dentition true Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence Congenital true Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Finding site Palatal structure true Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence Congenital true Inferred relationship Some 3
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Finding site Face structure true Inferred relationship Some 3
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 5
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Has interpretation Impaired true Inferred relationship Some 5
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 6
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Has interpretation Impaired true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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