1332384001: cycline K-gerelateerd syndroom van neurobiologische ontwikkelingsstoornis, ernstige verstandelijke beperking en faciale dysmorfie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Severe intellectual disability (disorder)\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Severe intellectual disability (disorder)\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Functional finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability (disorder)\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Functional finding\Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Speech finding\Speech and language finding\...
• \Communication, speech and language finding\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Language finding\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Communication disorder\Disorder of language\Developmental language disorder\Developmental speech disorder\Speech delay\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability (disorder)\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental language disorder\Developmental speech disorder\Speech delay\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental delay\Speech delay\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5353846019	Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5353847011	CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5353848018	Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
15103971000146112	CCNK-gerelateerd syndroom van neurologische ontwikkelingsstoornis, ernstige verstandelijke handicap en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15103981000146114	CCNK-gerelateerd syndroom van neurobiologische ontwikkelingsstoornis, ernstige verstandelijke beperking en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15103991000146111	cycline K-gerelateerd syndroom van neurobiologische ontwikkelingsstoornis, ernstige verstandelijke beperking en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15104001000146119	CCNK-gerelateerd syndroom van neurologische ontwikkelingsstoornis, ernstige mentale retardatie en faciale dysmorfie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15104011000146117	cycline K-gerelateerd syndroom van neurobiologische ontwikkelingsstoornis, ernstige verstandelijke beperking en faciale dysmorfie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5353849014	A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5353850014	A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviours.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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