721008000: Hall Riggs syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Hall Riggs syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\Hall Riggs syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hall Riggs syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hall Riggs syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Hall Riggs syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hall Riggs syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hall Riggs syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Hall Riggs syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hall Riggs syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Hall Riggs syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Hall Riggs syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Hall Riggs syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hall Riggs syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hall Riggs syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Hall Riggs syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hall Riggs syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hall Riggs syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Hall Riggs syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hall Riggs syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hall Riggs syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Hall Riggs syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hall Riggs syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hall Riggs syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hall Riggs syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Hall Riggs syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Hall Riggs syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Hall Riggs syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Hall Riggs syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondylometaphyseal dysplasia\Hall Riggs syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hall Riggs syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3323019012 Hall Riggs syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3323020018 Hall Riggs syndrome en Synonym Active Case sensitive SNOMED CT core

3323021019 A very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Eight cases have been reported in the literature in two unrelated families. Dysmorphic features include hypertelorism, depressed nasal bridge, and large nose with a large nasal tip, anteverted nostrils and wide mouth with thick lips. Affected patients do not achieve language ability. The condition is probably hereditary, and transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hall Riggs syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Hall Riggs syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hall Riggs syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hall Riggs syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hall Riggs syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Hall Riggs syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Hall Riggs syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Hall Riggs syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Hall Riggs syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Hall Riggs syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Hall Riggs syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hall Riggs syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Hall Riggs syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Hall Riggs syndrome	Is a	Spondylometaphyseal dysplasia	true	Inferred relationship	Some
Hall Riggs syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Hall Riggs syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Hall Riggs syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Hall Riggs syndrome	Finding site	Structure of head	true	Inferred relationship	Some	2
Hall Riggs syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Hall Riggs syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Hall Riggs syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Hall Riggs syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Hall Riggs syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Hall Riggs syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Hall Riggs syndrome	Is a	Metaphyseal chondrodysplasia	false	Inferred relationship	Some
Hall Riggs syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Hall Riggs syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Hall Riggs syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hall Riggs syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Hall Riggs syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Hall Riggs syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Hall Riggs syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Hall Riggs syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Hall Riggs syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Hall Riggs syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Hall Riggs syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Hall Riggs syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Hall Riggs syndrome	Finding site	Bone structure	false	Inferred relationship	Some	5
Hall Riggs syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	6
Hall Riggs syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Hall Riggs syndrome	Finding site	Brain structure	false	Inferred relationship	Some	6
Hall Riggs 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
3323019012	Hall Riggs syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3323020018	Hall Riggs syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323021019	A very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Eight cases have been reported in the literature in two unrelated families. Dysmorphic features include hypertelorism, depressed nasal bridge, and large nose with a large nasal tip, anteverted nostrils and wide mouth with thick lips. Affected patients do not achieve language ability. The condition is probably hereditary, and transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core