1187277001: Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity\Congenital deformity\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay 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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay 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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of bone in hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay 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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of bone in hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay 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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay 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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay 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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Acromesomelic dysplasia syndrome\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Longitudinal deficiency of part of upper limb\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay 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\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Brachydactyly of hand\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Short stature, brachydactyly, obesity, global developmental delay syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, brachydactyly, obesity, global developmental delay syndrome

Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4673075011	Short stature, brachydactyly, obesity, global developmental delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4673076012	Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4673077015	SBIDDS - short stature, brachydactyly, impaired intellectual development, seizures	en	Synonym	Active	Case sensitive	SNOMED CT core
4673078013	A rare genetic multiple congenital anomalies syndrome with characteristics of short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability and more variably; seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion and short neck. The malformation is due to a loss of function in the enzyme protein arginine N-methyltransferase 7 (encoded by PRMT7, 16q22.1) resulting in decreased levels of protein arginine methylation. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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