719685004: Absent thumb with short stature and immunodeficiency syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Absence of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Absence of upper limb\Absence of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Absence of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome

\Disorder of skeletal system\Absent thumb with short stature and immunodeficiency syndrome

\Congenital anomaly of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Congenital absence of part of upper limb\Congenital absence of hand\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Congenital absence of thumb\Absent thumb with short stature and immunodeficiency syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Absent thumb with short stature and immunodeficiency syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3317482016 Absent thumb with short stature and immunodeficiency syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3317483014 Absent thumb with short stature and immunodeficiency syndrome en Synonym Active Case insensitive SNOMED CT core

3317484015 An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Absent thumb with short stature and immunodeficiency syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Absent thumb with short stature and immunodeficiency syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome	Finding site	Entire thumb	false	Inferred relationship	Some	2
Absent thumb with short stature and immunodeficiency syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Absent thumb with short stature and immunodeficiency syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Absent thumb with short stature and immunodeficiency syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Absent thumb with short stature and immunodeficiency syndrome	Finding site	Entire thumb	true	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome	Is a	Adactyly	false	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Congenital anomaly of thumb	false	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Congenital absence of part of upper limb	false	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Absence of hand	false	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Some	3
Absent thumb with short stature and immunodeficiency syndrome	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Disorder of skeletal system	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Associated morphology	Aplasia	true	Inferred relationship	Some	1
Absent thumb with short stature and immunodeficiency syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Some	2
Absent thumb with short stature and immunodeficiency syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Absent thumb with short stature and immunodeficiency syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Short stature disorder	false	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Congenital absence of thumb	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Absent thumb with short stature and immunodeficiency syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Absent thumb with short stature and immunodeficiency syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Absent thumb with short stature and immunodeficiency syndrome	Finding site	Entire thumb	false	Inferred relationship	Some	3
Absent thumb with short stature and immunodeficiency syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Absent thumb with short stature and immunodeficiency syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Absent thumb with short stature and immunodeficiency syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4

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
3317482016	Absent thumb with short stature and immunodeficiency syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3317483014	Absent thumb with short stature and immunodeficiency syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3317484015	An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	en	Definition	Active	Case sensitive	SNOMED CT core