719842006: Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Congenital hypoplasia of ulna and intellectual disability syndrome

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Congenital hypoplasia of ulna and intellectual disability syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Congenital hypoplasia of ulna and intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital hypoplasia of ulna and intellectual disability syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Congenital hypoplasia of ulna and intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital hypoplasia of ulna\Congenital hypoplasia of ulna and intellectual disability syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318128010 Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3318129019 Congenital hypoplasia of ulna and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3318130012 Ulna hypoplasia with intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3318131011 A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypoplasia of ulna and intellectual disability syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Congenital hypoplasia of ulna and intellectual disability syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Congenital hypoplasia of ulna and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Congenital hypoplasia of ulna and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hypoplasia of ulna and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypoplasia of ulna and intellectual disability syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Congenital hypoplasia of ulna and intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Congenital hypoplasia of ulna and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Congenital hypoplasia of ulna and intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Congenital hypoplasia of ulna and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Congenital hypoplasia of ulna and intellectual disability syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome	Is a	Congenital hypoplasia of ulna	true	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Congenital hypoplasia of ulna and intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital hypoplasia of ulna and intellectual disability syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital hypoplasia of ulna and intellectual disability syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	2
Congenital hypoplasia of ulna and intellectual disability syndrome	Finding site	Bone structure of ulna	true	Inferred relationship	Some	2
Congenital hypoplasia of ulna and intellectual disability syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Congenital hypoplasia of ulna and intellectual disability syndrome	Finding site	Bone structure of extremity	false	Inferred relationship	Some	3
Congenital hypoplasia of ulna and intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318128010	Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318129019	Congenital hypoplasia of ulna and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318130012	Ulna hypoplasia with intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318131011	A very rare syndrome with characteristics of mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. It has been reported in two siblings. The family is suggestive of autosomal recessive inheritance. Prognosis is poor.	en	Definition	Active	Case sensitive	SNOMED CT core